Tangier disease is a rare inherited disorder characterized by a severe reduction in the amount of high-density lipoprotein (HDL), often referred to as "good cholesterol," in the bloodstream. High-density lipoproteins are created when a type of protein in the bloodstream, apolipoprotein A1 (apoA1), picks up cholesterol from the cells. People with Tangier disease have a greatly reduced ability to transport cholesterol out of their cells, leading to a deficiency of high-density lipoproteins in the bloodstream and the accumulation of cholesterol in many body tissues. Reduced blood levels of high-density lipoproteins is sometimes described as hypolipoproteinemia.
People affected by this condition also have slightly elevated amounts of fat in the blood (mild hypertriglyceridemia) and disturbances in nerve function (neuropathy). The tonsils are visibly affected by this disorder; they frequently appear orange or yellow and are extremely enlarged. Affected people often develop premature atherosclerosis, which is characterized by fatty deposits and scar-like tissue lining the arteries. Other signs of this condition may include an enlarged spleen (splenomegaly), an enlarged liver (hepatomegaly), clouding of the clear covering of the eye (cornea), and early-onset cardiovascular disease.
Tangier disease is a rare disorder with approximately 50 cases identified worldwide. This disorder was originally discovered on Tangier Island off the coast of Virginia, but has now been identified in people from many different countries.
Mutations in the ABCA1 gene cause Tangier disease.
The ABCA1 gene provides instructions for making a protein that transports cholesterol and particular fats called phospholipids out of the cells. These mutations prevent the ABCA1 protein from effectively transporting cholesterol and phospholipids out of cells for pickup by ApoA1 in the bloodstream. This inability to transport cholesterol out of cells leads to a deficiency of high-density lipoproteins in the circulation, which is a risk factor for coronary artery disease. Additionally, the buildup of cholesterol in cells can be toxic, causing cell death or impaired function. These combined factors lead to the signs and symptoms of Tangier disease.
Read more about the ABCA1 gene.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
These resources address the management of Tangier disease and may include treatment providers.
You might also find information on treatment of Tangier disease in
Educational resources and Patient support.
You may find the following resources about Tangier disease helpful. These materials are written for the general public.
You may also be interested in these resources, which are designed for healthcare professionals and researchers.
- A-alphalipoprotein Neuropathy
- alpha High Density Lipoprotein Deficiency Disease
- Cholesterol thesaurismosis
- Familial High Density Lipoprotein Deficiency Disease
- Familial Hypoalphalipoproteinemia
- HDL Lipoprotein Deficiency Disease
- Lipoprotein Deficiency Disease, HDL, Familial
- Tangier Disease Neuropathy
- Tangier Hereditary Neuropathy
The resources on this site should not be used as a substitute for
professional medical care or advice. Users seeking information about
a personal genetic disease, syndrome, or condition should consult with a qualified
See How can I find a genetics professional in my area? in the Handbook.